Test Price
2,800 AED✅ Home Collection Available
GJB1 Gene CMTX1 Genetic Test (NGS) in Dubai, UAE | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity confirmed via ISO 9001:2015 accredited NGS workflows.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM across all emirates.
- Clinical Guidance: Complimentary telephonic post-test interpretation session with a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification – share your policy via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The GJB1 Gene CMTX1 Genetic Test is a high-depth Next-Generation Sequencing (NGS) assay that screens for pathogenic variants in the GJB1 gene, the definitive molecular cause of X-linked Charcot-Marie-Tooth disease type 1. This advanced methodology provides comprehensive coverage of coding regions and splice sites, ensuring robust and reliable results for accurate clinical diagnosis.
| Feature | Our GJB1 NGS Test | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Methodology | NGS (Next-Generation Sequencing) – full gene coverage + intron-exon boundaries | Sanger Sequencing – limited to coding regions |
| Analytical Sensitivity | >99.9% for single nucleotide variants & small indels | ~95-98% (varies with GC-rich regions) |
| Turnaround Time | 3 – 4 Weeks | 6 – 8 Weeks |
| Sample Types | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | Whole Blood only |
| Price (AED) | 2,800 | 2,400 – 2,600 |
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist, interpreting GJB1 variants requires careful correlation with the patient's clinical phenotype and a detailed multigenerational pedigree. This NGS test provides the high fidelity needed for confident variant classification, but it is essential to combine it with nerve conduction studies for a definitive CMTX1 diagnosis. We always guide families through the implications of X-linked inheritance patterns."
— Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Clinical Guidance
⚠️ Medication Advisory: Do not discontinue, taper, or alter any prescribed medication without first consulting your treating physician. Neurological medications require careful supervised management.
Patient Safety & Exclusion Criteria
- Exclusion Criteria: Inability to provide informed consent; minors without a legal guardian's written consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability; active anticoagulation therapy that precludes safe venipuncture – a finger-stick dried blood spot (FTA card) can be used as an alternative after genetic counselling clearance.
- Emergency Red Flags: If you experience sudden, severe muscle weakness, respiratory distress, or swallowing difficulties after sample collection or while awaiting results, seek immediate medical attention at the nearest emergency department. These symptoms are unrelated to the blood draw itself but may indicate rapid disease progression.
- Genetic Counselling Mandate: A pre-test genetic counselling session (included in the service) is compulsory to construct a detailed family pedigree and discuss potential outcomes.
Patient FAQ & Clinical Guidance
1. What does the GJB1 CMTX1 NGS test detect?
This test detects pathogenic variants in the GJB1 gene causing X-linked Charcot-Marie-Tooth disease type 1. It sequences the entire coding region and splice sites to identify missense, nonsense, frameshift, and splice-site mutations with 99.9% analytical sensitivity. Results help neurologists and geneticists confirm CMTX1 and differentiate it from other peripheral neuropathies.
2. Who should consider this test?
Individuals with a family history of Charcot-Marie-Tooth disease, unexplained progressive distal muscle weakness, foot deformities (e.g., pes cavus), or sensory loss should undergo this test. Symptomatic males and carrier females with a positive pedigree benefit most, as it clarifies inheritance patterns and guides reproductive planning.
3. How should I prepare and what sample is needed?
No fasting or special preparation is required, but you must complete a pre-test genetic counselling session to document your family pedigree. We accept whole blood, extracted DNA, or a single drop of blood spotted onto an FTA card. A VIP mobile phlebotomist will collect the sample at your home, office, or hotel between 8 AM and 11 PM.
UAE Regulatory & Data Privacy Adherence
Your Data & Safety Are Protected by UAE Law
- Data Protection: All genetic and personal data is processed in strict compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Governance: Our digital health infrastructure adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring the highest standards of confidentiality and security for your medical records.
- Clinical Safety & Consent: Patient safety protocols and informed consent procedures are rigorously aligned with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: DNA Labs UAE operates under DHA Facility License Number 1143 and is ISO 9001:2015 certified, reflecting our commitment to quality management.
Clinical & Logistical Metadata
| Test Name | GJB1 Gene CMTX1 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | G60.0 |
| LOINC Code | 21636-7 |
| DHA Facility License & Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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